A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892140



Internal ID168947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169697570..169698052hg38UCSC Ensembl
chr1:169666711..169667193hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419085
Supporting Variants
Samples
Known GenesSELL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892140
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer